VON HIPPEL-LINDAU DISEASE: THE CLINICAL
MANIFESTATIONS AND GENETIC ANALYSIS RESULTS
OF TWO CASES FROM A SINGLE FAMILY
Kinyas S1, Ozal SA1,*, Guclu H1, Gurlu V1, Esgin H1, Gurkan H2
*Corresponding Author: Dr. Sadık Altan Ozal, Trakya Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim
Dalı, Edirne 22030, Turkey. Tel: +90-505-450-42-67. Fax: +90-284-223-55-06. E-mail: altanozal@hotmail.com
page: 65
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DISCUSSION
Fundus fluorescein angiography is the most informative
diagnostic method because of the vascular
nature of a RH. Fluorescein is apparent in the dilated
feeding artery in the arterial phase, and the drainage
vein becomes apparent in the venous phase, while
the tumor demonstrates progressive hyperfluorescence
with late leakage of dye into the surrounding
structures [8]. In the two cases in this study, FFA
examination showed that the typical feeding artery
and drainage vein of the RH in the early-phase, and
fluo-rescein leakage in the late-phase, was due to the
vascular endothelial failure of the tumor.
The OCT findings in VHL have been published
[9]. These include retinoschisis, epiretinal membranes,
macular oedema and serous detachment. Optical coherence
tomography demonstrated a foveal detachment
in Case 1. The foveal detachment was due to
fluid accumulation and macular oedema. Hyper reflectance
was also observed under the cross-section of
the RH upon OCT examination in Case 2. The authors
consider that OCT is a useful diagnostic method in
RH because it allows for the evaluation of peripheral
tumors and macular complications, such as macular
oedema, foveal detachment and epiretinal membranes.
Although RHs show a slow-growing pattern and
are sometimes quiescent, they may lead to significant
vision loss by causing cystoid macular oedema, and
exudative and tractional retinal detachment [3]. It was
believed that the primary reason for the vision loss in
Case 1 was foveal detachment. The RH was close to
the posterior pole in Case 1. In Case 2, the primary
reason for the vision loss was optic nerve atrophy.
The CNS hemangioblastoma operation may have
led to optic nerve atrophy and vision loss in Case 2.
Retinal hemangioblastomas were at the equator of
the eye in Case 2. Germline mutations as a result
of single nucleotide changes that were detected in
these cases (c.202T>C, p.Ser68Pro) are reported in
only two other cases in the literature [10] but, in
these cases, no systemic involvement except RH was
detected. The other details of these cases have not
been mentioned in the literature. Although these two
cases had the same mutation, renal involvement was
detected in both cases and also CNS involvement in
Case 2, in addition to RH.
Life-threatening diseases such as VHL can be
diagnosed by ophthalmologists. The life expectancy
of VHL patients is below the age of 50 because of
RCC and CNS hemangioblastoma complications
[11]. von Hippel-Lindau disease is a familial cancer
syndrome; patients with VHL and at-risk family
members of these patients should be followed by
periodic screening programs and genetic analyses.
Eventually, the development of early diagnosis methods
in VHL, such as genetic analysis, may provide
both superior visual prognosis and life expectancy.
In conclusion, VHL patients who had a germline
mutation resulting from a single nucleotide change
in the VHL gene (c.202 T>C, p.Ser68Pro) missense
mutation may have renal and CNS involvement, in
addition to RH.
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